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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
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Accession:DOID:9005816 term browser browse the term
Definition:This disease is characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech.
Synonyms:exact_synonym: NCDN-RELATED DISORDER;   NEDIES
 xref: MIM:619373;   MONDO:0859162


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NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: NCDN-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms ClinVar
OMIM		 PMID:25741868 PMID:33711248 NCBI chr 5:144,322,287...144,332,117
Ensembl chr 5:144,322,287...144,332,047 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Neurodevelopmental Disorders 2634
        NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              Neurodevelopmental Disorders 2634
                NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS 1
paths to the root